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Transcriptome-derived investigation of biosynthesis of quinolizidine alkaloids in narrow-leafed lupin (Lupinus angustifolius L.) highlights candidate genes linked to iucundus locus.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37701-5
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- Publication type:
- Article
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0499-z
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- Publication type:
- Article
WDR13 : A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1911, doi. 10.3390/genes12121911
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- Publication type:
- Article
Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 54, doi. 10.3390/genes12010054
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- Publication type:
- Article
The Polish adaptation and further validation of the Fear of Being Single Scale (FBSS).
- Published in:
- Current Psychology, 2021, v. 40, n. 5, p. 2499, doi. 10.1007/s12144-019-00192-2
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- Publication type:
- Article
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 371, doi. 10.1111/cge.13611
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- Publication type:
- Article
FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 3, p. 274, doi. 10.1111/cge.13592
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- Publication type:
- Article
Novel COL12A1 variant as a cause of mild familial extracellular matrix‐related myopathy.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 415, doi. 10.1111/cge.13489
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- Publication type:
- Article
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 3/4, p. 381, doi. 10.1111/cge.13410
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- Publication type:
- Article
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
- Published in:
- Folia Neuropathologica, 2017, v. 55, n. 3, p. 214, doi. 10.5114/fn.2017.70486
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- Publication type:
- Article
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 7, p. 1269, doi. 10.3390/diagnostics11071269
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- Publication type:
- Article
THE MED13L HAPLOINSUFFICIENCY SYNDROME ASSOCIATED WITH DE NOVO NONSENSE VARIANT (P.GLN1981*).
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 3, p. 32, doi. 10.34763/jmotherandchild.20202403.2021.d-20-00003
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- Publication type:
- Article
Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 869, doi. 10.3390/brainsci10110869
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- Publication type:
- Article
Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.735292
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- Publication type:
- Article
Analysis of serum chemerin concentrations in psoriatic patients in relation to metabolic abnormalities.
- Published in:
- Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2019, v. 36, n. 5, p. 531, doi. 10.5114/ada.2019.89503
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- Publication type:
- Article
FLEXIBLE ORGANIZATION OF REPOSITORIES FOR PROVISIONING CLOUD INFRASTRUCTURES.
- Published in:
- Computing & Informatics, 2012, v. 31, n. 4, p. 743
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- Publication type:
- Article
VIRTUAL GRID -- NEW PARADIGM OF SYSTEM RESOURCES DYNAMIC ORGANIZATION.
- Published in:
- Computing & Informatics, 2011, v. 30, n. 4, p. 749
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- Publication type:
- Article
Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183866
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- Publication type:
- Article
HYALURONIC ACID IN ORTHOPEDICS.
- Published in:
- Wiadomości Lekarskie, 2020, v. 73, n. 9, p. 1878, doi. 10.36740/WLek202009114
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- Publication type:
- Article
SARKOPENIA - NIEDOSTRZEGANY PROBLEM STARZEJĄCEGO SIĘ SPOŁECZEŃSTWA.
- Published in:
- Wiadomości Lekarskie, 2019, v. 72, n. 9, Part 1, p. 1655, doi. 10.36740/wlek201909109
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- Publication type:
- Article
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0167-0
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- Publication type:
- Article
A cautionary note on using binary calls for analysis of DNA methylation.
- Published in:
- Bioinformatics, 2015, v. 31, n. 9, p. 1519, doi. 10.1093/bioinformatics/btv090
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- Publication type:
- Article
Serum concentration of osteopontin and interleukin 17 in psoriatic patients.
- Published in:
- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 2, p. 203, doi. 10.17219/acem/112604
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- Publication type:
- Article
Assessment of visfatin concentrations in the serum of male psoriatic patients in relation to metabolic abnormalities.
- Published in:
- Advances in Clinical & Experimental Medicine, 2020, v. 29, n. 1, p. 79, doi. 10.17219/acem/111820
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- Publication type:
- Article
Skin changes in chronic kidney disease.
- Published in:
- Dermatology Review / Przeglad Dermatologiczny, 2017, v. 104, n. 2, p. 142, doi. 10.5114/dr.2017.67389
- By:
- Publication type:
- Article
Zastosowanie leków przeciwmalarycznych w terapii chorób skóry.
- Published in:
- Dermatology Review / Przeglad Dermatologiczny, 2016, v. 103, n. 4, p. 316, doi. 10.5114/dr.2016.61782
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- Publication type:
- Article
CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts.
- Published in:
- Polish Journal of Pediatrics / Pediatria Polska, 2021, v. 96, n. 2, p. 148, doi. 10.5114/POLP.2021.107401
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- Publication type:
- Article
Comparison and assessment of thyroid morphology and function in inhabitants of Lower Silesia before and after administration of a single dose of iodine-containing contrast agent during cardiac intervention procedure.
- Published in:
- Polish Journal of Endocrinology / Endokrynologia Polska, 2012, v. 63, n. 4, p. 294
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- Publication type:
- Article
Destabilization of mutated human PUS3 protein causes intellectual disability.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2063, doi. 10.1002/humu.24471
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- Publication type:
- Article
Evidence Against RAB40 AL Being the Locus for Martin- Probst X-Linked Deafness-Intellectual Disability Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1171, doi. 10.1002/humu.22620
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- Publication type:
- Article
Osteopontin Serum Concentration and Metabolic Syndrome in Male Psoriatic Patients.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 755, doi. 10.3390/jcm10040755
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- Publication type:
- Article
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2220, doi. 10.3390/jcm9072220
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- Publication type:
- Article
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1245, doi. 10.3390/jcm9051245
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- Publication type:
- Article
A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00140
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- Publication type:
- Article
A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1152, doi. 10.1093/hmg/ddac276
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- Publication type:
- Article
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 21, p. 3669, doi. 10.1093/hmg/ddy277
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- Publication type:
- Article
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 589, doi. 10.1093/hmg/ddx426
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- Publication type:
- Article
Knowledge representation of the state of a cloud-native application.
- Published in:
- International Journal on Software Tools for Technology Transfer, 2024, v. 26, n. 1, p. 21, doi. 10.1007/s10009-023-00705-2
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- Publication type:
- Article
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1899
- By:
- Publication type:
- Article
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
- Published in:
- 2016
- By:
- Publication type:
- journal article